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Biomedical subjects

F Grange

Publications and source records attributed to F Grange.

At least 37 records · Page 2Linked to original sources

Forensic validation of the short tandem repeat HUMACTBP2 using capillary electrophoresis.

Experiments were performed to evaluate the forensic identification of the short tandem repeat (STR) HUMACTBP2 (human beta-actin-related pseudogene) using automated fluorescence-based capillary electrophoresis. The HUMACTBP2 is a complex tetranucleotide STR locus with more than 32 alleles in the range of 202-323 bp. The reproducibility of genetic typing using a fluorescent labeled allelic ladder was determined by comparison of the calculated fragment size after consecutive (within-day) and nonconsecutive (day to day) injection. The maximum variation in size (window) observed for any allele was 0.23 bp for the within-day and 0.8 bp for the day-to-day precision. Furthermore, it is possible to achieve a 1 bp resolution, the precision of the reproducibility assays being about 99.95%. Sixty blood samples and twenty stains were typed with both automated fluorescent sequencer ABI 373A and ABI 310. Identical genotypes were obtained with both techniques and the ABI 310 seemed to be more sensitive than the ABI 373A. A population sample of 197 unrelated individuals from southwest Switzerland was analyzed and the genotype frequencies observed were similar to those reported by others. Thirty-one alleles and 126 genotypes were found. The observed heterozygosity was 0.934. Mixtures from two different blood samples varying in their ratio were typed and the minor fraction was detectable to about 1:10. The practical usefulness of the HUMACTBP2 is illustrated by analyzing casework samples. This validation study proves the usefulness of the HUMACTBP2 locus in forensics and the detection efficiency using fluorescent capillary electrophoresis.

Actins↗

Exercise-induced decreases in sarcoplasmic reticulum Ca(2+)-ATPase activity attenuated by high-resistance training.

Muscle biopsies were performed on the vastus lateralis muscle prior to and during a high-resistance training (HRT) programme in order to examine the effects of hypertrophy on sarcoplasmic reticulum Ca2+ ATPase activity at rest and during exercise. In six male untrained volunteers (peak aerobic power, Vo2 peak = 3.39 +/- 0.13 L min-1, mean +/- SE), the resting Ca2+ ATPase activity (mumol-min-1 g wet wt-1) at 0 (4.89 +/- 0.20), 4 (5.62 +/- 0.56), 7 (5.15 +/- 0.41) and 12 (4.82 +/- 0.11) weeks was unchanged by HRT. During cycle ergometer exercise, prior to training, Ca(2+)-ATPase was reduced (P < 0.05) by 14% during the initial 30 min at 58% Vo2 peak and (P < 0.05) a further 19% during 30 min at 72% Vo2 peak. Following 7 and 12 weeks of training, the decreases in SR Ca(2+)-ATPase were less pronounced (P < 0.05). These results indicate that muscle hypertrophy, although incapable of altering Ca(2+)-ATPase pump activity at rest, can attenuate the decrease observed in exercise by mechanism(s) as yet unknown.

Adult↗

F13B and CD4 allele frequencies in south west Switzerland.

Allele frequencies of the two short tandem repeat (STR) systems F13B and CD4 were determined in a population sample from South West Switzerland using PCR analysis. We found five alleles for both STRs in a population sample of 205 unrelated individuals. No significant deviation from Hardy-Weinberg equilibrium was observed.

Alleles↗

PCR-based forensic testing of DNA from stained cytological smears.

Experiments were performed to evaluate the efficiency of PCR-STR (Short Tandem Repeats) and PCR-sequence polymorphisms for the identification of stained pap smears and postcoital slides stained with cytological and forensic techniques. HLA-DQA1, PolyMarker, Amelogenin, HUMTH01, HUMVWFA31, HUMF13B, and HUMFES/FPS were determined. With the exception of the forensic Baecchi stain, all the PCR-systems gave consistent results in comparison with the reference blood from the donors. Cytological stained smears can be important evidence for identification in sexual assault cases and in missing person cases.

Coloring Agents↗

[Mercury erythema after accidental exposure to mercury vapor].

Mercury exanthem can be considered as a systemic contact dermatitis following exposure to mercury vapor in patients with a prior sensitization to mercurials. It is characterized by a symmetrically distributed erythematous eruption appearing predominantly in the major flexural areas, in the neck, the lower portion of the abdomen and the upper anteromedial part of the thighs. In some cases, small pustules develop over the erythematous surfaces. We report our observations of two patients with mercury exanthem after exposure to mercury vapor caused by a broken thermometer. One of these patients presented with an unusual bullous form of mercury exanthem. Although diagnosis of mercury exanthem can be essentially based on clinical features, confirmation of the patient's exposure to mercury should be obtained. Cutaneous patch tests often prove the sensitization to mercurials.

Accidents, Home↗

[Oculomotor nerve paralysis with complete ptosis in herpes zoster ophthalmicus: 2 cases].

INTRODUCTION: Only few studies focus on ocular motor paralyses in herpes zoster ophtalmicus. We report 2 cases of complete ptosis resulting from paralysis of the superior lid levator, appearing at day 6 and 7 of an ophtalmic herpes zoster under treatment with acyclovir. CASE REPORTS: Case 1: A 68 year old woman presented an history of ophtalmic herpes zoster with kerato-conjunctivitis and uveitis treated with acyclovir. At the third day of the treatment and 7th day of the ophtalmic zoster, an incomplete paralysis of the oculomotor nerve appeared resulting in a complete ptosis. The treatment was carried on until the 21st day without improvement. Four months later, all symptoms had completely cleared. CASE 2: A 66 year old woman was treated with acyclovir for an ophtalmic herpes zoster without ocular involvement. At the 4th day of the treatment and 6th day of the onset of the ophtalmic zoster, a paralytic ptosis and a acute epithelial keratitis appeared. Acyclovir treatment was continued for 10 days. The ptosis resolved gradually during 2 months. DISCUSSION: The manifestation of a complete ptosis with paralysis of the oculomotor nerve or of one of its branch is rarely seen in ophtalmic herpes zoster. However minor symptoms are often detected when patients were carefully examined with regard to external ocular movements. The physiopathological mechanism are discussed about. The possible action of an early antiviral treatment on the prevention of these complications is not known. In our two cases, a paralytic ptosis broke out suddenly, even under treatment with acyclovir for respectively 3 and 4 days. For future prospective studies about antiviral drugs for ophtalmic herpes zoster, a systematic evaluation of these neurological symptoms would be interesting.

Acyclovir↗

[Spironolactone-induced pemphigoid].

BACKGROUND: Sporadic observations would suggest that certain drugs play a role in the development of pemphigoid. A recent case-control study on long-term drug use associated with pemphigoid was unable to confirm the suspected role of these drugs, but did demonstrate a significant association between the development of pemphigoid and use of spironolactone. CASE REPORT: An 82-year-old patient had bullous erythematous lesions on the left thigh suggestive of pemphigoid. Histology and direct cutaneous immunofluorescence confirmed the diagnosis. The patient had been taking alimemazine, adrafinil, flunarizine, spironolactone and furosemide as long-term treatment. Spironolactone alone was withdrawn. The cutaneous lesions regressed and have not recurred during the 18-month follow-up. DISCUSSION: The causal effect of spironolactone in this case of pemphigoid is quite plausible. This hypothesis is favored by the agreement with epidemiological data. Other observations are however required before the causal role of spironolactone in development of pemphigoid can be confirmed.

Aged↗

Pilotropic cutaneous T-cell lymphoma without mucinosis. A variant of mycosis fungoides? French Study Group of Cutaneous Lymphomas.

BACKGROUND: In the course of mycosis fungoides, pilofollicular manifestations without mucinosis (papules, keratoses, comedones, or epidermal cysts) are rare (15 cases reported). Therefore, histological and clinical diagnoses may be difficult. The clinical course and histopathological and immunohistochemical findings in 9 patients are described. OBSERVATIONS: Pilofollicular lesions were present at the onset (n = 3), before (n = 3), or during a relapse of mycosis fungoides (n = 3). Comedones and epidermal cysts were most frequent (n = 5). They disappeared with lymphoma therapy (n = 4), therapy with isotretinoin (n = 3), or spontaneously (n = 1), or they persisted (n = 1). Clues to the histopathological diagnosis consisted of pilotropism of the infiltrate with minor alteration of the hair follicle walls. The infiltrate was monomorphous and composed of sezariform CD4+ lymphocytes. Pilotropic or peripilofollicular infiltrates, or the absence of infiltrate, were detected in consecutive biopsy specimens obtained from the same patient. The keratinocyte expression of intercellular adhesion molecule type 1 was observed in the hair follicle bulb in front of the pilotropic infiltrate but not in the epidermis. No staining was observed in biopsy specimens of 6 of 7 patients with follicular mucinosis, of folliculitis lesions, or of normal hair follicles. CONCLUSIONS: Our findings indicate the role of adhesion molecules in pilotropism leading to mechanical obstruction of the follicle by tumoral cells followed by hyperkeratosis and cyst formation. It remains to be determined if the expression of intercellular adhesion molecule type 1 is the cause or the consequence of pilotropism. By becoming more aware of it, this variant of mycosis fungoides is probably not so rare.

Adult↗

[Plantar hidradenitis].

INTRODUCTION: Plantar hidradenitis, one of several possible causes of painful papulo-nodular lesions of the foot in children and young adults, was recently described as the presence of characteristic lesions of the eccrine sweat glands. CASE REPORT: A 15-year-old boy consulted for a sudden-onset painful eruption on the sole of the right foot. Physical examination revealed papulo-nodular erythromato-violet infiltrated lesions located on the anterior part of the right planta. Histology examination showed dense neutrophil inflammatory infiltration predominating at the dermo-hypodermic junction around the eccrine sweat glands. The excretory ducts of the sweat glands were infiltrated but the secretory glomerulae were intact. A dense infiltration of venular thrombi without vasculitis was also seen. The lesion regressed with aspirin (8 days) and rest. No recurrence has been recorded after 18 months. DISCUSSION: This clinical and histological presentation led to the diagnosis of plantar hidradenitis, confirming the disease entity. Former cases may have been described as trauma-induced plantar urticaria or plantar erythema nodosum. This diagnosis should be entertained in children or young adults with painful papulo-nodular eruptions of the soles. The histology examination should include the eccrine sweat glands.

Adolescent↗

[AIDS-related eosinophilic folliculitis. Efficacy of high dose topical corticotherapy].

INTRODUCTION: A chronic pruriginous eruption of eosinophil-rich follicular papules and pustules is observed in AIDS patients. The pathogenesis of this disease, termed eosinophil folliculitis, is poorly understood and treatment is debated. CASE REPORT: A 30-year-old woman with AIDS developed highly pruriginous lesions of 5 month duration localized on the face, the trunk and upper limbs. There were papulo-pustules and excoriated papules. The elementary lesion was a follicular pustula. The eosinophil count was normal. The pathology examination revealed a rich eosinophil infiltration around the hair follicles and sebaceous glands as well as follicular spongiosis. Search for demodex, pityrosporons and a large number of infectious agents was negative. Oral minocyclin was uneffective. Local high-dose corticosteroids produced a remarkable effect and led to complete remission in 9 months. DISCUSSION: Most cases of eosinophil folliculitis associated with AIDS have been reported in men, but rarely in Europe. The remarkable efficacy of the local corticosteroid in this case was exceptional. This condition could result from inappropriate inflammatory reaction in AIDS induced by various factors including demodex and pityrosporon. Several therapeutic approaches have been proposed to eradicate the triggering factors and others to modify the immune response. The exceptional response to the short local treatment with corticosteroids would suggest that this approach could be proposed as first intention treatment in eosinophil folliculitis associated with AIDS.

Acquired Immunodeficiency Syndrome↗

Failure of short term stimulation to reduce sarcoplasmic reticulum Ca(2+)-ATPase function in homogenates of rat gastrocnemius.

To examine the effect of short term intense activity on sarcoplasmic reticulum (SR) Ca2+ sequestering function, the gastrocnemius (G) muscles of 11 anaesthetized male rats (weight, 411 +/- 8 g, X +/- SE) were activated using supramaximal, intermittent stimulation (one train of 0.2 msec impulses per sec of 100 msec at 100 Hz). Homogenates were obtained from stimulated white (WG-S) and red (RG-S) tissues, assayed for Ca2+ uptake and maximal Ca2+ ATPase activity and compared to contralateral controls (WG-C, RG-C). Calcium uptake (nmoles/mg protein/min) determined using Indo-1 and at [Ca2+]i concentrations between 300-400 nM was unaffected (p > 0.05) by activity in both WG (6.14 + 0.43 vs 5.37 + 0.43) and RG (3.21 + 0.18 vs 3.07 + 0.20). Similarly, no effect (p > 0.05) of contractile activity was found for maximal Ca2+ ATPase activity (mumole/mg protein/min) determined spectrophotometrically in RG (0.276 + 0.03 vs 0.278 + 0.02). In WG, Ca2+ ATPase activity was 15% higher in WG-S compared to WG-C (0.412 + 0.03 vs 0.385 + 0.04). Repetitive stimulation resulted in a reduction in tetanic tension of 74% (p < 0.05) by 2 min in the G muscle. By the end of the stimulation period, ATP concentration was reduced (p < 0.05) by 57% in the WG and by 47% in the RG.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenosine Diphosphate↗

Effects of prolonged low frequency stimulation on skeletal muscle sarcoplasmic reticulum.

The role of prolonged electrical stimulation on sarcoplasmic reticulum (SR) Ca2+ sequestration measured in vitro and muscle energy status in fast white and red skeletal muscle was investigated. Fatigue was induced by 90 min intermittent 10-Hz stimulation of rat gastrocnemius muscle, which led to reductions (p < 0.05) in ATP, creatine phosphate, and glycogen of 16, 55, and 49%, respectively, compared with non-stimulated muscle. Stimulation also resulted in increases (p < 0.05) in muscle lactate, creatine, Pi, total ADP, total AMP, IMP, and inosine. Calculated free ADP (ADPf) and free AMP (AMPf) were elevated 3- and 15-fold, respectively. No differences were found in the metabolic response between tissues obtained from the white (WG) and red (RG) regions of the gastrocnemius. No significant reductions is SR Ca2+ ATPase activity were observed in homogenate (HOM) or a crude SR fraction (CM) from WG or RG muscle following exercise. Maximum Ca2+ uptake in HOM and CM preparations was similar in control (C) and stimulated (St) muscles. However, Ca2+ uptake at 400 nM free Ca2+ was significantly reduced in CM from RG (0.108 +/- 0.04 to 0.076 +/- 0.02 mumol.mg-1 protein.min-1 in RG - C and RG - St, respectively). Collectively, these data suggest that reductions in muscle energy status are dissociated from changes in SR Ca2+ ATPase activity in vitro but are related to Ca2+ uptake at physiological free [Ca2+ bd in fractionated SR from highly oxidative muscle. Dissociation of SR Ca2+ ATPase activity from Ca2+ uptake may reflect differences in the mechanisms evaluated by these techniques.

Animals↗

Comparison between familial and nonfamilial melanoma in France.

BACKGROUND AND DESIGN: Five percent to 10% of cutaneous malignant melanomas (CMMs) occur in a familial setting. Clinical, epidemiologic, and genetic studies of familial CMM in different regions of the world have led to various results. To assess the characteristics of familial CMM in France, the clinical, histologic, and epidemiologic characteristics of 295 patients with CMM were recorded, and a comprehensive familial investigation was performed for each case. Patients with a family history of CMM were compared with nonfamilial cases. RESULTS: Cutaneous malignant melanoma occurred as a familial cancer in 22 (8%) of 295 patients. Among the multiple variables studied, those significantly associated with the familial occurrence of CMM were red hair, inability to tan, and presence of clinically atypical moles. When these variables were considered together in a multivariate analysis, only the association with red hair (P = .001) and atypical moles (P < .05) remained significant. In addition, the patients with familial melanoma exhibited the following tendencies: a younger age at diagnosis, a higher number of moles, and the development of multiple primary melanomas, but these results did not reach statistical significance. Factors relating to UV light exposure, histologic features of CMM, course of the disease, and occurrence of nonmelanoma cancers showed a similar distribution between familial and nonfamilial cases. CONCLUSION: A familial investigation should be performed for each patient with CMM in France, particularly when he or she exhibits phenotypic risk factors for CMM such as red hair and atypical moles.

Adult↗

[Multiple keratosis induced by hydroxyurea].

INTRODUCTION: Specific skin manifestations including skin atrophy and stripes of erythema on the extremities have been reported in patients with long-term treatment with hydroxyurea (HU). CASE REPORT: A 60-year-old patient who had been treated with HU since 1986 for chronic myeloid leukaemia presented in March 1992 with lesions characteristic of HU-induced skin changes. Hydroxyurea was continued for two more years and the lesions worsened. Unusually encountered multiple skin keratoses developed rapidly creating a clinical picture compatible with carcinomatous transformation until the withdrawal of hydroxyurea. DISCUSSION: The chronology and the clinical signs were in favour of implicating hydroxyurea in the development of these keratoses. The literature on the subject revealed one comparable case with actinic keratoses and multiple skin carcinomas. The interactions between hydroxyurea and the keratinocytes of the basal layer could explain different aspects of hydroxyurea-related toxidermia. The most severe manifestation could be the development of epithelial skin cancer.

Female↗

[Lymphoma with skin manifestations in HIV infection: 8 cases].

INTRODUCTION: Cutaneous lymphomas occurring in HIV infection are a rare disease. Most of them are high grade lymphomas with fulminant course and poor prognosis. OBJECTIVE: Evaluate clinical and histological aspects as well as immunophenotype and evolution of these lymphomas. PATIENTS AND METHODS: Eight patients with HIV infection were studied between 1992 and 1994. The clinical and histological features were reviewed by the members of the French Study Group for Cutaneous Lymphomas. Staging procedures for lymphomas were performed in 7/8 patients. RESULTS: Seven non epidermotropic lymphomas and one mycosis fungoides were reviewed. Patients were male (6 cases) and female (2 cases); their mean age was 45 years (27-63). The mean level of CD4 T cells/mm3 was 141 (20-380). Only one patient presented with extracutaneous lesions. These lesions were similar to seronegative patients, but unusual features were observed in two cases. Histological classification showed high grade lymphomas in 6/8 cases. The immunophenotype was: T-cell lymphoma in 4 cases, B-cell lymphoma in 3 cases; it could not be determinated in one case. Six patients died. The median of survival is 8 months in this series. DISCUSSION: Our series confirms the predominance of high grade lymphomas presenting in the skin. The T-cell phenotype is more frequent. The onset of a cutaneous lymphoma has a poor prognosis in HIV infection. Most of our patients had localised disease at presentation. Therapeutic management of these lymphomas must be codified.

Adult↗